Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.G53A

SDHB

1,345 papers

RefSeq Summary

This tumor suppressor gene encodes the iron-sulfur protein subunit of the succinate dehydrogenase (SDH) enzyme complex which plays a critical role in mitochondria. The SDH enzyme complex is composed o...

Pfam Domains

Fer2_3aa 41–144UCSC2Fe-2S iron-sulfur cluster binding domain
Fer4_17aa 167–240UCSC4Fe-4S dicluster domain

Gene Aliases

HGNC Name

succinate dehydrogenase complex iron sulfur subunit B

HGNC Previous Symbols

SDH1; SDH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003000.3
p.G53A
c.158G>C
Surrounding Variants
19 papers
NM_003000.3
p.G53E
c.158G>A
4 papers
NM_003000.3
p.G53R
c.157G>C
5 papers
NM_003000.3
p.G53R
c.157G>A
1 paper
NM_003000.3
p.G53fs
c.157_158fs
3 papers
NM_003000.3
p.A52delFs
c.155delG
1 paper
NM_003000.3
p.A52delFs
c.154_155delGC
1 paper
NM_003000.3
p.D54N
c.160G>A
4 papers
NM_003000.3
p.A52V
c.155C>T
1 paper
NM_003000.3
p.A52D
c.155C>A
1 paper
NM_003000.3
p.A52delFs
c.154delC
2 papers
NM_003000.3
p.D54V
c.161A>T
1 paper
NM_003000.3
p.A52fs
c.154_155fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."